High carrier frequency of 21-hydroxylase deficiency in Cyprus
| Autor: | Alexia A P Phedonos, Christos Shammas, Vassos Neocleous, Nicos Skordis, Leonidas A. Phylactou, Tassos C. Kyriakides |
|---|---|
| Rok vydání: | 2013 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities endocrine system diseases Population Mutant 030209 endocrinology & metabolism Cyp21a2 gene urologic and male genital diseases 03 medical and health sciences 0302 clinical medicine Genetics medicine Congenital adrenal hyperplasia education Genetics (clinical) 030304 developmental biology 0303 health sciences education.field_of_study Carrier signal Newborn screening biology 21-Hydroxylase nutritional and metabolic diseases medicine.disease 3. Good health biology.protein Genetic diagnosis |
| Zdroj: | Clinical Genetics. 84:585-588 |
| ISSN: | 0009-9163 |
| DOI: | 10.1111/cge.12153 |
| Popis: | Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is a common autosomal recessive disorder caused by mutations in the CYP21A2 gene. The carrier frequency of CYP21A2 mutations has been estimated to be 1:25 to 1:10 on the basis of newborn screening. The main objective of this study was to determine the carrier frequency in the Cypriot population of mutations in the CYP21A2 gene. Three hundred unrelated subjects (150 males and 150 females) from the general population of Cyprus were screened for mutations in the CYP21A2 gene and its promoter. The CYP21A2 genotype analysis identified six different mutants and revealed a carrier frequency of 9.83% with the mild p.Val281Leu being the most frequent (4.3%), followed by p.Qln318stop (2.5%), p.Pro453Ser (1.33%), p.Val304Met (0.83%), p.Pro482Ser (0.67%) and p.Met283Val (0.17%). The notable high CYP21A2 carrier frequency of the Cypriot population is one of the highest reported so far by genotype analysis. Knowledge of the mutational spectrum of CYP21A2 will enable to optimize mutation detection strategy for genetic diagnosis of 21-OHD not only in Cyprus, but also the greater Mediterranean region. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text